Infantile Parkinsonism-dystonia

Common Name(s)

Infantile Parkinsonism-dystonia

Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increase in dopamine metabolites (review by {1:Kurian et al., 2011}). For an overlapping phenotype, see tyrosine hydroxylase deficiency ({605407}), also known as autosomal recessive Segawa syndrome.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile Parkinsonism-dystonia" for support, advocacy or research.

The Bachmann-Strauss Dystonia & Parkinson Foundation

The Bachmann-Strauss Dystonia & Parkinson Foundation was established in 1995 to find better treatments and cures for the movement disorders dystonia and Parkinson's disease and to provide medical and patient information.

Last Updated: 15 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile Parkinsonism-dystonia" for support, advocacy or research.

The Bachmann-Strauss Dystonia & Parkinson Foundation

The Bachmann-Strauss Dystonia & Parkinson Foundation was established in 1995 to find better treatments and cures for the movement disorders dystonia and Parkinson's disease and to provide medical and patient information.

https://www.dystonia-parkinson.org

Last Updated: 15 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Infantile Parkinsonism-dystonia" returned 2 free, full-text research articles on human participants. First 3 results:

Infantile parkinsonism-dystonia: a dopamine "transportopathy".
 

Author(s): Craig Blackstone

Journal: J. Clin. Invest.. 2009 Jun;119(6):1455-8.

 

The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar ...

Last Updated: 5 Jun 2009

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Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
 

Author(s): Manju A Kurian, Juan Zhen, Shu-Yuan Cheng, Yan Li, Santosh R Mordekar, Philip Jardine, Neil V Morgan, Esther Meyer, Louise Tee, Shanaz Pasha, Evangeline Wassmer, Simon J R Heales, Paul Gissen, Maarten E A Reith, Eamonn R Maher

Journal: J. Clin. Invest.. 2009 Jun;119(6):1595-603.

 

Genetic variants of the SLC6A3 gene that encodes the human dopamine transporter (DAT) have been linked to a variety of neuropsychiatric disorders, particularly attention deficit hyperactivity disorder. In addition, the homozygous Slc6a3 knockout mouse displays a hyperactivity phenotype. ...

Last Updated: 2 Jun 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Infantile Parkinsonism-dystonia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.